title: Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers.
authors.affiliation: Department of Pediatrics, Division of Endocrinology, LSU Health Sciences Center and Children's Hospital, New Orleans, LA 70118, USA.
authors.forename: Pinar Gumus
authors.initials: PG
authors.lastname: Balikcioglu
authors.forename: Ricardo
authors.initials: R
authors.lastname: Gómez
authors.forename: Alfonso
authors.initials: A
authors.lastname: Vargas
authors.forename: Swaroop
authors.initials: S
authors.lastname: Aradhya
authors.forename: Ludwine M
authors.initials: LM
authors.lastname: Messiaen
authors.forename: Yves
authors.initials: Y
authors.lastname: Lacassie
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D000309:Adrenal Insufficiency; D001741:Black or African American / Q000235:genetics*; D002675:Child, Preschool; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics*; D003937:Diagnosis, Differential; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D000075262:Hypoadrenocorticism, Familial; D007223:Infant; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D017384:Sequence Deletion; D035781:Siblings / Q000208:ethnology*
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; C539965:NR0B1 protein, human